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    PDE6G phosphodiesterase 6G [ Homo sapiens (human) ]

    Gene ID: 5148, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PDE6Gprovided by HGNC
    Official Full Name
    phosphodiesterase 6Gprovided by HGNC
    Primary source
    HGNC:HGNC:8789
    See related
    Ensembl:ENSG00000185527 MIM:180073; AllianceGenome:HGNC:8789
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDEG; RP57
    Summary
    This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
    Expression
    Biased expression in spleen (RPKM 3.3), lymph node (RPKM 1.9) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q25.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81650459..81663127, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82567389..82580038, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79617489..79630157, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79525737-79526238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79526239-79526738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12972 Neighboring gene NPL4 homolog, ubiquitin recognition factor Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79537592-79537800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79585853-79586396 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:79586397-79586940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9140 Neighboring gene tetraspanin 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79630511-79631145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79632831-79633752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79633753-79634674 Neighboring gene coiled-coil domain containing 137 Neighboring gene oxidoreductase like domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Phosphodiesterase 6 subunits are expressed and altered in idiopathic pulmonary fibrosis. Nikolova S, et al. Respir Res, 2010 Oct 27. PMID 20979602, Free PMC Article
    2. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Dvir L, et al. Am J Hum Genet, 2010 Aug 13. PMID 20655036, Free PMC Article
    3. Determinants for phosphodiesterase 6 inhibition by its gamma-subunit. Zhang Z, et al. Biochemistry, 2010 May 11. PMID 20397626, Free PMC Article
    4. Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25). Dollfus H, et al. Genomics, 1993 Aug. PMID 8406511
    5. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Hahn LB, et al. Invest Ophthalmol Vis Sci, 1994 Mar. PMID 8125719

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Collectively, we report previously unrecognized PDE6 expression in human lungs, significant alterations of the PDE6D and PDE6G/H subunits in IPF lungs.
      Title: Phosphodiesterase 6 subunits are expressed and altered in idiopathic pulmonary fibrosis.
    2. These findings demonstrate the positive role of the gamma subunit in maintaining phosphodiesterase activity and confirm the contribution of PDE6G to the etiology of retinitis pigmentosa in humans.
      Title: Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
    3. The C-terminus of PED gamma occludes the active site of PDE6, thereby preventing hydrolysis of cGMP.
      Title: Determinants for phosphodiesterase 6 inhibition by its gamma-subunit.
    4. Crystal structures of a chimaeric PDE5/PDE6 catalytic domain (PDE5/6cd) complexed with sildenafil or 3-isobutyl-1-methylxanthine and the Pgamma-inhibitory peptide Pgamma(70-87) have been determined at 2.9 and 3.0 A, respectively.
      Title: Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the gamma-subunit.
    5. PDEG functions to link c-Src and G-protein-coupled receptor kinase 2 in a signaling unit that regulates p42/p44 mitogen-activated protein kinase by epidermal growth factor
      Title: The inhibitory gamma subunit of the type 6 retinal cGMP phosphodiesterase functions to link c-Src and G-protein-coupled receptor kinase 2 in a signaling unit that regulates p42/p44 mitogen-activated protein kinase by epidermal growth factor.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Retinitis pigmentosa
    MedGen: C0035334 OMIM: 268000 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		Compare labs
    Retinitis pigmentosa 57
    MedGen: C3150821 OMIM: 613582 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125749, DKFZp686C0587

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3',5'-cyclic-GMP phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cGMP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables spectrin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in photoreceptor outer segment membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
    Names
    GMP-PDE gamma
    phosphodiesterase 6G, cGMP-specific, rod, gamma
    rod cG-PDE G
    NP_001352653.1
    NP_001352654.1
    NP_002593.1
    XP_016880225.1
    XP_054172375.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009834.2 RefSeqGene

      Range
      11877..17960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001365724.1 → NP_001352653.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same protein.
      Source sequence(s)
      AC139530, EL945892
      Consensus CDS
      CCDS11783.1
      UniProtKB/Swiss-Prot
      P18545, Q3KP63, Q7Z3U8
      Related
      ENSP00000458167.1, ENST00000571224.5
      Conserved Domains (1) summary
      pfam04868
      Location:5 → 87
      PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

    2. NM_001365725.1 → NP_001352654.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same protein.
      Source sequence(s)
      AC139530
      Consensus CDS
      CCDS11783.1
      UniProtKB/Swiss-Prot
      P18545, Q3KP63, Q7Z3U8
      Related
      ENSP00000461464.1, ENST00000571004.1
      Conserved Domains (1) summary
      pfam04868
      Location:5 → 87
      PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

    3. NM_002602.4 → NP_002593.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

      See identical proteins and their annotated locations for NP_002593.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 3, and 4 all encode the same protein.
      Source sequence(s)
      AC139530, BC106884, BQ639132, BX647779
      Consensus CDS
      CCDS11783.1
      UniProtKB/Swiss-Prot
      P18545, Q3KP63, Q7Z3U8
      Related
      ENSP00000328412.5, ENST00000331056.10
      Conserved Domains (1) summary
      pfam04868
      Location:5 → 87
      PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

    RNA

    1. NR_026872.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC139530, BX647779
      Related
      ENST00000574024.1

    2. NR_158591.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' end compared to variant 1. This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC139530, BM685565, EL945892

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81650459..81663127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024736.2 → XP_016880225.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

      UniProtKB/Swiss-Prot
      P18545, Q3KP63, Q7Z3U8
      Conserved Domains (1) summary
      pfam04868
      Location:5 → 87
      PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82567389..82580038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316400.1 → XP_054172375.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

      UniProtKB/Swiss-Prot
      P18545, Q3KP63, Q7Z3U8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P18545.1 GenPept UniProtKB/Swiss-Prot:P18545

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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